Development and Validation of a Standardized Assessment Instrument for Health-related Quality of Life (HrQoL) in Patients With Classical Homocystinuria
Status: Recruiting
Location: See location...
Intervention Type: Behavioral
Study Type: Observational
SUMMARY
Patients, parents of young / handicapped patients, and experts will be interviewed to collect contents relevant for HrQoL in CBS deficiency. Based on these data, a questionnaire will be developed and tested for comprehensibility in patients and parents of young / handicapped patients. A final questionnaire version will be tested for psychometric criteria including validity and reliability.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 8
Healthy Volunteers: f
View:
• Patients with CBS deficiency from age 8 years
• Parents of patient(s) \< 18 years with cognitive impairment
• Parents of patients between age 4 and 7
• Experts on CBS deficiency
• Able to give informed consent as documented by signature
Locations
Other Locations
Switzerland
Kinderspital Zürich
RECRUITING
Zurich
Contact Information
Primary
Helene Werner, PD, Dr
helene.werner@kispi.uzh.ch
004144266
Backup
Martina Huemer, Prof
martina.huemer@kispi.uzh.ch
004144266
Time Frame
Start Date: 2025-01-15
Estimated Completion Date: 2025-09
Participants
Target number of participants: 80
Related Therapeutic Areas
Sponsors
Leads: University Children's Hospital, Zurich